Variant report

Variant	rs2487739
Chromosome Location	chr1:179713460-179713461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179712622..179714301-chr1:179716150..179718228,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1052447	0.97[ASN][1000 genomes]
rs10798718	0.97[ASN][1000 genomes]
rs10798719	0.96[ASN][1000 genomes]
rs10798720	0.96[ASN][1000 genomes]
rs10798721	0.96[ASN][1000 genomes]
rs10913874	0.97[ASN][1000 genomes]
rs10913876	0.97[ASN][1000 genomes]
rs10913877	0.97[ASN][1000 genomes]
rs10913878	0.97[ASN][1000 genomes]
rs10913879	0.96[ASN][1000 genomes]
rs11588754	0.83[ASN][1000 genomes]
rs12047821	0.96[ASN][1000 genomes]
rs12408874	0.97[ASN][1000 genomes]
rs12408882	0.97[ASN][1000 genomes]
rs2245195	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2245610	0.88[ASN][1000 genomes]
rs2245702	0.88[ASN][1000 genomes]
rs2318389	0.97[ASN][1000 genomes]
rs2454193	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2454195	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2454196	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2454197	0.90[ASN][1000 genomes]
rs2487740	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2487746	0.81[ASN][1000 genomes]
rs2504032	0.85[ASN][1000 genomes]
rs2504033	0.85[ASN][1000 genomes]
rs2504035	0.88[ASN][1000 genomes]
rs2504038	0.87[ASN][1000 genomes]
rs2504039	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2504040	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2504041	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2504042	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2504043	0.88[ASN][1000 genomes]
rs2504048	0.88[ASN][1000 genomes]
rs2504049	0.88[ASN][1000 genomes]
rs2504053	0.90[ASN][1000 genomes]
rs3845381	0.97[ASN][1000 genomes]
rs3845382	0.93[ASN][1000 genomes]
rs3845383	0.92[ASN][1000 genomes]
rs3856045	0.80[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3909014	0.96[ASN][1000 genomes]
rs3909015	0.97[ASN][1000 genomes]
rs4269737	0.88[ASN][1000 genomes]
rs4469684	0.97[ASN][1000 genomes]
rs4511077	0.97[ASN][1000 genomes]
rs4651050	0.94[ASN][1000 genomes]
rs60556788	0.94[ASN][1000 genomes]
rs61828370	0.96[ASN][1000 genomes]
rs6663482	0.97[ASN][1000 genomes]
rs7365663	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548339	chr1:179686244-179722827	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179711400-179714400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:179711600-179713600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:179711600-179713800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr1:179711600-179713800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:179711600-179713800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
6	chr1:179711600-179714000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr1:179711600-179714000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:179711800-179713600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:179711800-179713600	Bivalent Enhancer	Spleen	Spleen
10	chr1:179711800-179713800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:179711800-179713800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:179711800-179713800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:179711800-179713800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
14	chr1:179711800-179714000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr1:179711800-179714000	Bivalent Enhancer	Placenta	Placenta
16	chr1:179711800-179714200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:179712000-179713600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:179712000-179713600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:179712000-179713600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:179712000-179713600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:179712000-179713800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:179712000-179713800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:179712000-179713800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
24	chr1:179712000-179714000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr1:179712000-179714000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:179712200-179713600	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr1:179712200-179713600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:179712200-179713600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:179712200-179713600	Bivalent/Poised TSS	HepG2	liver
30	chr1:179712200-179713800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:179712200-179713800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
32	chr1:179712200-179713800	Bivalent/Poised TSS	Thymus	Thymus
33	chr1:179712200-179714000	Enhancers	Liver	Liver
34	chr1:179712400-179713600	Enhancers	Fetal Heart	heart
35	chr1:179712400-179713800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
36	chr1:179712400-179713800	Bivalent Enhancer	Esophagus	oesophagus
37	chr1:179712600-179713600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:179712600-179713600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr1:179712600-179714400	Bivalent Enhancer	Fetal Brain Male	brain
40	chr1:179712800-179713600	Bivalent Enhancer	Small Intestine	intestine
41	chr1:179712800-179713800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
42	chr1:179712800-179714000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
43	chr1:179713000-179713600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
44	chr1:179713000-179713600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
45	chr1:179713000-179713600	Bivalent Enhancer	HMEC	breast
46	chr1:179713000-179714200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr1:179713000-179715200	Bivalent/Poised TSS	Fetal Thymus	thymus
48	chr1:179713200-179713600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:179713200-179713600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:179713200-179713600	Bivalent/Poised TSS	Psoas Muscle	Psoas

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